{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:46:08Z","timestamp":1777805168040,"version":"3.51.4"},"reference-count":15,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2026,4,25]],"date-time":"2026-04-25T00:00:00Z","timestamp":1777075200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"abstract":"\n \n \n The\n TUBGCP6<\/jats:italic>\n gene (22q13.33) encodes the tubulin gamma complex\u2013associated protein 6 (TUBGCP6), which plays an essential role in centrosome function. Biallelic\n TUBGCP6<\/jats:italic>\n variants cause an ultrarare disease with microcephaly, neurodevelopmental delay, and chorioretinopathy. We report a 5-year-old boy with a novel homozygous\n TUBGCP6<\/jats:italic>\n variant and review previously reported cases.\n <\/jats:p>\n \n The patient presented with global developmental delay, neurosensorial hearing loss, infantile spasms, and dysmorphic features. Brain magnetic resonance imaging showed corpus callosum and brainstem hypoplasia. Nerve conduction study revealed mild demyelinating sensory neuropathy. Trio whole-exome sequencing (WES) identified a novel\n TUBGCP6<\/jats:italic>\n variant, c.3914C>A (p.Ala1305Glu), classified as a hot variant of uncertain significance (VUS) and predicted likely deleterious.\n <\/jats:p>\n Eighteen cases have been described in the literature with various brain malformation (lissencephaly, corpus callosum abnormalities, and cerebellar atrophy). Our report confirms that TUBGCP6 has an important role in brain development and, when defective, can cause variable patterns of brain malformations associated with complex neurodevelopmental disorders.<\/jats:p>\n <\/jats:sec>","DOI":"10.1177\/08830738261439209","type":"journal-article","created":{"date-parts":[[2026,4,25]],"date-time":"2026-04-25T13:40:18Z","timestamp":1777124418000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Novel Homozygous\n TUBGCP6<\/i>\n Variant Impairs Brain Development: Case Report and Literature Review"],"prefix":"10.1177","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-8988-4464","authenticated-orcid":false,"given":"Silvia","family":"Lelli","sequence":"first","affiliation":[{"name":"Alma Mater Studiorum University of Bologna"},{"name":"UOC Neuropsichiatria dell'et\u00e0 pediatrica, IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giulia","family":"Balletto","sequence":"additional","affiliation":[{"name":"University of Genoa"},{"name":"Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-3981-5994","authenticated-orcid":false,"given":"Isabelle","family":"Bacchi","sequence":"additional","affiliation":[{"name":"Alma Mater Studiorum University of Bologna"},{"name":"UO Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monica","family":"Maffei","sequence":"additional","affiliation":[{"name":"Programma di neuroradiologia con tecniche ad elevata complessit\u00e0, IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Veronica","family":"Di Pisa","sequence":"additional","affiliation":[{"name":"UOC Neuropsichiatria dell'et\u00e0 pediatrica, IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valentina","family":"Gentile","sequence":"additional","affiliation":[{"name":"UOC Neuropsichiatria dell'et\u00e0 pediatrica, IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Flavia","family":"Palombo","sequence":"additional","affiliation":[{"name":"Programma di Neurogenetica, IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesca","family":"Montanari","sequence":"additional","affiliation":[{"name":"Programma di neuroradiologia con tecniche ad elevata complessit\u00e0, IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4928-1037","authenticated-orcid":false,"given":"Caterina","family":"Garone","sequence":"additional","affiliation":[{"name":"Alma Mater Studiorum University of Bologna"},{"name":"UOC Neuropsichiatria dell'et\u00e0 pediatrica, IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2026,4,25]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3122"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1966.00970050599003"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0028936"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.61.13.2"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajo.2019.05.001"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2020.12.011"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2022.951850"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.3389\/fevo.2022.1059477"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2023.1112153"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63203"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1177\/24741264231167236"},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.1159\/000539099"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.spen.2022.100973"},{"key":"e_1_3_3_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/s0960-9822(03)00530-x"},{"key":"e_1_3_3_16_2","unstructured":"Bahi-Buisson N Maillard C. Tubulinopathies overview. In: Adam MP Feldman J Mirzaa GM eds. GeneReviews. University of Washington; 1993\u20132025. Updated September 16 2021 https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK350554\/. Accessed July 30 2025.."}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/08830738261439209","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/08830738261439209","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/08830738261439209","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:42:23Z","timestamp":1777495343000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/08830738261439209"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,4,25]]},"references-count":15,"alternative-id":["10.1177\/08830738261439209"],"URL":"https:\/\/doi.org\/10.1177\/08830738261439209","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,4,25]]},"article-number":"08830738261439209"}}